FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2010061657> ?p ?o ?g. }

• W2010061657 endingPage "523" @default.
• W2010061657 startingPage "513" @default.
• W2010061657 abstract "Novel methodologies for detection of chromosomal abnormalities have been made available in the recent years but their clinical utility in prenatal settings is still unknown. We have conducted a comparative study of currently available methodologies for detection of chromosomal abnormalities after invasive prenatal sampling.A multicentric collection of a 1-year series of fetal samples with indication for prenatal invasive sampling was simultaneously evaluated using three screening methodologies: (1) karyotype and quantitative fluorescent polymerase chain reaction (QF-PCR), (2) two panels of multiplex ligation-dependent probe amplification (MLPA), and (3) chromosomal microarray-based analysis (CMA) with a targeted BAC microarray. A total of 900 pregnant women provided informed consent to participate (94% acceptance rate). Technical performance was excellent for karyotype, QF-PCR, and CMA (~1% failure rate), but relatively poor for MLPA (10% failure). Mean turn-around time (TAT) was 7 days for CMA or MLPA, 25 for karyotype, and two for QF-PCR, with similar combined costs for the different approaches. A total of 57 clinically significant chromosomal aberrations were found (6.3%), with CMA yielding the highest detection rate (32% above other methods). The identification of variants of uncertain clinical significance by CMA (17, 1.9%) tripled that of karyotype and MLPA, but most alterations could be classified as likely benign after proving they all were inherited. High acceptability, significantly higher detection rate and lower TAT, could justify the higher cost of CMA and favor targeted CMA as the best method for detection of chromosomal abnormalities in at-risk pregnancies after invasive prenatal sampling." @default.
• W2010061657 created "2016-06-24" @default.
• W2010061657 creator A5002277712 @default.
• W2010061657 creator A5022108367 @default.
• W2010061657 creator A5031807627 @default.
• W2010061657 creator A5043549091 @default.
• W2010061657 creator A5043970809 @default.
• W2010061657 creator A5044406617 @default.
• W2010061657 creator A5059971180 @default.
• W2010061657 creator A5060696964 @default.
• W2010061657 creator A5062015297 @default.
• W2010061657 creator A5062385617 @default.
• W2010061657 creator A5065461526 @default.
• W2010061657 creator A5071009635 @default.
• W2010061657 creator A5077197086 @default.
• W2010061657 creator A5089053023 @default.
• W2010061657 creator A5090059674 @default.
• W2010061657 date "2011-10-06" @default.
• W2010061657 modified "2023-10-17" @default.
• W2010061657 title "Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis" @default.
• W2010061657 cites W1969211599 @default.
• W2010061657 cites W1975306242 @default.
• W2010061657 cites W1977259209 @default.
• W2010061657 cites W1986090838 @default.
• W2010061657 cites W1986885179 @default.
• W2010061657 cites W1998861400 @default.
• W2010061657 cites W2004708117 @default.
• W2010061657 cites W2024546340 @default.
• W2010061657 cites W2026355205 @default.
• W2010061657 cites W2041956734 @default.
• W2010061657 cites W2047260293 @default.
• W2010061657 cites W2052583373 @default.
• W2010061657 cites W2056205515 @default.
• W2010061657 cites W2059549236 @default.
• W2010061657 cites W2076743789 @default.
• W2010061657 cites W2078523697 @default.
• W2010061657 cites W2082988863 @default.
• W2010061657 cites W2085809389 @default.
• W2010061657 cites W2091991690 @default.
• W2010061657 cites W2113926943 @default.
• W2010061657 cites W2131587128 @default.
• W2010061657 cites W2133919933 @default.
• W2010061657 cites W2161276171 @default.
• W2010061657 cites W2169279496 @default.
• W2010061657 cites W4243524184 @default.
• W2010061657 doi "https://doi.org/10.1007/s00439-011-1095-5" @default.
• W2010061657 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3277707" @default.
• W2010061657 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21975797" @default.
• W2010061657 hasPublicationYear "2011" @default.
• W2010061657 type Work @default.
• W2010061657 sameAs 2010061657 @default.
• W2010061657 citedByCount "80" @default.
• W2010061657 countsByYear W20100616572012 @default.
• W2010061657 countsByYear W20100616572013 @default.
• W2010061657 countsByYear W20100616572014 @default.
• W2010061657 countsByYear W20100616572015 @default.
• W2010061657 countsByYear W20100616572016 @default.
• W2010061657 countsByYear W20100616572017 @default.
• W2010061657 countsByYear W20100616572018 @default.
• W2010061657 countsByYear W20100616572019 @default.
• W2010061657 countsByYear W20100616572020 @default.
• W2010061657 countsByYear W20100616572021 @default.
• W2010061657 countsByYear W20100616572022 @default.
• W2010061657 crossrefType "journal-article" @default.
• W2010061657 hasAuthorship W2010061657A5002277712 @default.
• W2010061657 hasAuthorship W2010061657A5022108367 @default.
• W2010061657 hasAuthorship W2010061657A5031807627 @default.
• W2010061657 hasAuthorship W2010061657A5043549091 @default.
• W2010061657 hasAuthorship W2010061657A5043970809 @default.
• W2010061657 hasAuthorship W2010061657A5044406617 @default.
• W2010061657 hasAuthorship W2010061657A5059971180 @default.
• W2010061657 hasAuthorship W2010061657A5060696964 @default.
• W2010061657 hasAuthorship W2010061657A5062015297 @default.
• W2010061657 hasAuthorship W2010061657A5062385617 @default.
• W2010061657 hasAuthorship W2010061657A5065461526 @default.
• W2010061657 hasAuthorship W2010061657A5071009635 @default.
• W2010061657 hasAuthorship W2010061657A5077197086 @default.
• W2010061657 hasAuthorship W2010061657A5089053023 @default.
• W2010061657 hasAuthorship W2010061657A5090059674 @default.
• W2010061657 hasBestOaLocation W20100616571 @default.
• W2010061657 hasConcept C104317684 @default.
• W2010061657 hasConcept C120599132 @default.
• W2010061657 hasConcept C120821319 @default.
• W2010061657 hasConcept C141231307 @default.
• W2010061657 hasConcept C150194340 @default.
• W2010061657 hasConcept C172680121 @default.
• W2010061657 hasConcept C186836561 @default.
• W2010061657 hasConcept C2778258057 @default.
• W2010061657 hasConcept C2779234561 @default.
• W2010061657 hasConcept C2781188995 @default.
• W2010061657 hasConcept C30481170 @default.
• W2010061657 hasConcept C36823959 @default.
• W2010061657 hasConcept C49105822 @default.
• W2010061657 hasConcept C53226629 @default.
• W2010061657 hasConcept C54355233 @default.
• W2010061657 hasConcept C60644358 @default.
• W2010061657 hasConcept C86803240 @default.
• W2010061657 hasConcept C90583042 @default.

• next